The contribution of de novo coding mutations to meningomyelocele
Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been prop...
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| Published in | Nature (London) Vol. 641; no. 8062; pp. 419 - 426 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
London
Nature Publishing Group UK
08.05.2025
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained
1
. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele
2
. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in
Xenopus
embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis.
Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure. |
|---|---|
| AbstractList | Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained1. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele2. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis.Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained1. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele2. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis. Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained 1 . We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele 2 . Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis. Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure. Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained1. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele2. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis. Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained . We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele . Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk. The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis. |
| Author | Issa, Mahmoud Y. Mutchinick, Osvaldo M. Jiang, Nan Ashley-Koch, Allison E. Ha, Yoo-Jin Jiny Meave, Naomi Friedman, Liana Gee, Heon Yung Wallingford, John B. Major, Michael B. Araujo, Camila Medina-Bereciartu, José Ramón Patel, Arzoo Vong, Keng Ioi Capra, Valeria Schroeder, Sarah Plutzer, Isaac Barrows, Chelsea Au, Kit Sing Khara, Mulazim Hussain Tang, Isaac Kibar, Zoha Le, Joan T. Mumtaz, Sara Lee, Sangmoon Kim, Sangwoo Gleeson, Joseph G. Kingsmore, Stephen F. Banka, Niyati Jiwani, Fiza Hildebrandt, Friedhelm Shuldiner, Alan R. Jeong, Hui Su Miller, W. Todd Ahmed, Awais Lee, Ji Eun Machado, Helio R. Howarth, Robyn Salem, Aida M. S. Blanco, Francisco A. Northrup, Hope Strain, Madison Marwan, Ahmed I. Yurrita, Anna Melikishvili, Gia Nisal, Ashna Benoit, Béatrice Bot, Gyang Markus Alkelai, Anna Lee, Chanjae Yu, Seyoung Heffner, Caleb Tolias, Kimberley F. Bagga, Krisha Xu, Libin Finnell, Richard H. Poüs, Christian Wallace, Cassidy Jhamb, Ishani Meltzer, Hal S. Rhee, Soeun Noureldeen, Mahmoud M. Stevenson, Roger E. Murray, Stephen A. Shin, Donghyuk Zaki, |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/40140573$$D View this record in MEDLINE/PubMed |
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| Contributor | Güneş, Ayfer Sakarya Le, Joan T Araújo, Camila Phillips, H Westley Hanak, Brian Shril, Shirlee Kara, Bülent Au, Kit Sing Kolvenbach, Caroline M Salimi-Dafsari, Hormos Magana, Tony Tkemaladze, Tinatin Lupo, Philip J Koch, Allison E Ashley Gonda, David D Kirmani, Salman Meltzer, Hal S Takahashi, Yukitoshi |
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| Copyright | The Author(s), under exclusive licence to Springer Nature Limited 2025 Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. 2025. The Author(s), under exclusive licence to Springer Nature Limited. Copyright Nature Publishing Group 2025 |
| Copyright_xml | – notice: The Author(s), under exclusive licence to Springer Nature Limited 2025 Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. – notice: 2025. The Author(s), under exclusive licence to Springer Nature Limited. – notice: Copyright Nature Publishing Group 2025 |
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| Snippet | Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close.... Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close.... |
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| SubjectTerms | 13 13/109 14/1 38 38/39 38/47 45/23 45/77 631/208/135 631/80/304 64/114 692/308/2056 Actin Animals Autism Chromatin Cohort Studies Confidence intervals Cytoskeleton Disease Embryogenesis Embryonic growth stage Female Gene disruption Genes Genetic Predisposition to Disease - genetics Health risk assessment Health risks Humanities and Social Sciences Humans Hydrocephalus Male Meningomyelocele - genetics Microtubules - metabolism Missense mutation multidisciplinary Mutation Mutation - genetics Mutation, Missense - genetics Netrin-1 Netrin-1 - metabolism Neural tube Recruitment Risk Science Science (multidisciplinary) Signal transduction Signal Transduction - genetics Spina bifida Xenopus laevis - embryology Xenopus laevis - genetics |
| Title | The contribution of de novo coding mutations to meningomyelocele |
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